Publications by authors named "Lynne M Bird"

73Publications

Erratum: High-voltage, diffuse delta rhythms coincide with wakeful consciousness and complexity in Angelman syndrome.

Neurosci Conscious 2020 5;2020(1):niaa021. Epub 2020 Oct 5.

Department of Psychology, University of California Los Angeles, 3423 Franz Hall, Los Angeles, CA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/nc/niaa021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7533426PMC
October 2020

Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment.

Mol Psychiatry 2020 Aug 13. Epub 2020 Aug 13.

Roche Pharma Research and Early Development, Neuroscience and Rare Diseases, Roche Innovation Center Basel, Basel, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41380-020-0858-6DOI Listing
August 2020

Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia.

Am J Med Genet A 2020 08 23;182(8):1890-1895. Epub 2020 Jun 23.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61639DOI Listing
August 2020

High-voltage, diffuse delta rhythms coincide with wakeful consciousness and complexity in Angelman syndrome.

Neurosci Conscious 2020 14;2020(1):niaa005. Epub 2020 Jun 14.

Department of Psychology, University of California Los Angeles, 3423 Franz Hall, Los Angeles, CA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/nc/niaa005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7293820PMC
June 2020

Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning.

Am J Med Genet A 2020 09 11;182(9):2021-2026. Epub 2020 Jun 11.

Department of Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61720DOI Listing
September 2020

Patterns of malformation associated with esophageal atresia/tracheoesophageal fistula: A retrospective single center study.

Am J Med Genet A 2020 06 6;182(6):1351-1363. Epub 2020 Apr 6.

Department of Pediatrics, Division of Genetics and Dysmorphology, UC San Diego/Rady Children's Hospital, San Diego, California.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61582DOI Listing
June 2020

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.

Am J Hum Genet 2020 05 2;106(5):596-610. Epub 2020 Apr 2.

Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada; Institute of Medical Sciences, University of Toronto, Toronto, ON M5S 1A8, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2020.03.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212265PMC
May 2020

Leiomyosarcoma in Birt-Hogg-Dubé Syndrome.

J Pediatr Hematol Oncol 2020 03;42(2):136-137

Division of Hematology/Oncology.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MPH.0000000000001715DOI Listing
March 2020

An observational study of pediatric healthcare burden in Angelman syndrome: results from a real-world study.

Orphanet J Rare Dis 2019 11 4;14(1):239. Epub 2019 Nov 4.

Department of Pediatrics, San Diego; Clinical Genetics / Dysmorphology, Rady Children's Hospital San Diego, University of California, 3020 Children's Way #5031, San Diego, CA, 92123, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-019-1210-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6829925PMC
November 2019

A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome.

Orphanet J Rare Dis 2019 10 22;14(1):232. Epub 2019 Oct 22.

Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California at Irvine, 101 The City Drive South, Orange, CA, 92868, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-019-1216-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6806546PMC
October 2019

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genet Med 2020 03 3;22(3):524-537. Epub 2019 Oct 3.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
March 2020

Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History Study.

Mol Genet Genomic Med 2019 07 14;7(7):e00734. Epub 2019 May 14.

Clinical Genetics/Dysmorphology, University of California, San Diego, Rady Children's Hospital San Diego, San Diego, California.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.734DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625091PMC
July 2019

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 06 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 2019

Maladaptive behaviors in individuals with Angelman syndrome.

Am J Med Genet A 2019 06 3;179(6):983-992. Epub 2019 Apr 3.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61140DOI Listing
June 2019

Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes.

Biol Psychiatry 2019 05 19;85(9):752-759. Epub 2019 Jan 19.

Neuroscience, Ophthalmology and Rare Diseases, Roche Innovation Center, Roche Pharma Research and Early Development, Basel, Switzerland. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.biopsych.2019.01.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6482952PMC
May 2019

Identifying facial phenotypes of genetic disorders using deep learning.

Nat Med 2019 01 7;25(1):60-64. Epub 2019 Jan 7.

Division of Medical Genetics, A. I. du Pont Hospital for Children/Nemours, Wilmington, DE, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41591-018-0279-0DOI Listing
January 2019

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 03;21(3):764-765

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41436-018-0326-8
Publisher Site
http://dx.doi.org/10.1038/s41436-018-0326-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608433PMC
March 2019

Heterozygous WNT1 variant causing a variable bone phenotype.

Am J Med Genet A 2018 11 24;176(11):2419-2424. Epub 2018 Sep 24.

University of California, San Diego, La Jolla, California.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.40347DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6289778PMC
November 2018

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 04 7;21(4):867-876. Epub 2018 Sep 7.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-018-0269-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752285PMC
April 2019

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.

Am J Med Genet A 2018 02 21;176(2):415-420. Epub 2017 Dec 21.

Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38557DOI Listing
February 2018

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.

Am J Hum Genet 2017 Aug 20;101(2):206-217. Epub 2017 Jul 20.

Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115, USA; Johannes Gutenberg University, Mainz 55122, Germany; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA; Division of Evolution and Genomic Science, School of Biological Sciences, Manchester Academic Health Science Centre, Manchester M13 9NT, UK. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297173024
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2017.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5544382PMC
August 2017

Erratum to: Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis.

J Neurodev Disord 2017 17;9:30. Epub 2017 Jul 17.

Department of Cell Biology and Physiology, University of North Carolina, Chapel Hill, NC 27599 USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s11689-017-9210-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5514461PMC
July 2017

Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis.

J Neurodev Disord 2017 8;9:17. Epub 2017 May 8.

Department of Cell Biology and Physiology, University of North Carolina, Chapel Hill, NC 27599 USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s11689-017-9195-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5422949PMC
May 2017

Angelman syndrome: Current and emerging therapies in 2016.

Am J Med Genet C Semin Med Genet 2016 12 8;172(4):384-401. Epub 2016 Nov 8.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.31536DOI Listing
December 2016

Treatment of genetic disorders-A vision coming into focus.

Am J Med Genet C Semin Med Genet 2016 12 3;172(4):311-312. Epub 2016 Nov 3.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.31535DOI Listing
December 2016

Pharmacological therapies for Angelman syndrome.

Wien Med Wochenschr 2017 Jun 12;167(9-10):205-218. Epub 2016 Jan 12.

Department of Pediatrics, University of California, San Diego, CA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10354-015-0408-zDOI Listing
June 2017

Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation.

Am J Med Genet A 2015 Nov 24;167A(11):2844-6. Epub 2015 Jun 24.

Department of Pediatrics, University of California, San Diego, California.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37213DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4708255PMC
November 2015

Angelman Syndrome.

Neurotherapeutics 2015 Jul;12(3):641-50

Department of Biological Chemistry, The Johns Hopkins University School of Medicine, 725 N. Wolfe St., Baltimore, MD, 21205, USA,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s13311-015-0361-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489961PMC
July 2015

Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.

Am J Med Genet A 2015 Feb 13;167A(2):271-81. Epub 2014 Nov 13.

Division of Medical Genetics, A.I. duPont Hospital for Children, Wilmington, Delaware, and Sidney Kimmel Medical School at T. Jefferson University, Philadelphia, Pennsylvania.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36863DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5589071PMC
February 2015

Angelman syndrome: review of clinical and molecular aspects.

Authors:
Lynne M Bird

Appl Clin Genet 2014 16;7:93-104. Epub 2014 May 16.

Department of Pediatrics, University of California, Division of Genetics, Rady Children's Hospital, San Diego, California, USA.

View Article

Download full-text PDF

Source
http://www.dovepress.com/angelman-syndrome-review-of-clinica
Publisher Site
http://dx.doi.org/10.2147/TACG.S57386DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4036146PMC
June 2014

Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome.

Am J Med Genet A 2014 Jan 20;164A(1):259-63. Epub 2013 Nov 20.

Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, Washington.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36163DOI Listing
January 2014

Pulmonary interstitial glycogenosis in a patient ultimately diagnosed with Noonan syndrome.

Pediatr Pulmonol 2014 May 3;49(5):508-11. Epub 2013 Sep 3.

Division of Pediatric Respiratory Medicine, University of California San Diego and Rady Children's Hospital, San Diego, California.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ppul.22871DOI Listing
May 2014

Growth charts for 22q11 deletion syndrome.

Am J Med Genet A 2012 Nov 6;158A(11):2672-81. Epub 2012 Aug 6.

Department of Pediatric Neurology, Miami Children's Hospital, Miami, Florida, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35485DOI Listing
November 2012

Hoffman syndrome: New patients, new insights.

Am J Med Genet A 2011 Jan 10;155A(1):149-53. Epub 2010 Dec 10.

The Hospital for Sick Children, University of Toronto, ON, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33678DOI Listing
January 2011

Global developmental delay in a 10-month-old infant boy.

J Dev Behav Pediatr 2010 Apr;31(3 Suppl):S46-8

Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/DBP.0b013e3181d82f72DOI Listing
April 2010

Global developmental delay in a 10-month-old infant boy.

J Dev Behav Pediatr 2009 Feb;30(1):72-4

Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/DBP.0b013e3181976a83DOI Listing
February 2009

Femoral facial syndrome: a case report with coexistent hydrocephaly.

Clin Dysmorphol 2008 Oct;17(4):259-63

Division of Neurosurgery, University of California, Rady Childrens Hospital of San Diego, California 92123, USA.

View Article

Download full-text PDF

Source
http://pdfs.journals.lww.com/clindysmorphol/2008/10000/Femor
Web Search
http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
Publisher Site
http://dx.doi.org/10.1097/MCD.0b013e32830866cdDOI Listing
October 2008

Respiratory compromise after MgSO4 therapy for preterm labor in a woman with myotonic dystrophy: a case report.

J Reprod Med 2008 Mar;53(3):220-2

Department of Maternal Fetal Medicine, Sharp Mary Birch Hospital for Women and San Diego Perinatal Center, 92123, USA.

View Article

Download full-text PDF

Source
March 2008

Expanding the phenotype of mosaic trisomy 20.

Am J Med Genet A 2008 Feb;146A(3):330-6

Department of Pediatrics, University of California, San Diego, California 92123, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32126DOI Listing
February 2008

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.

Neurogenetics 2007 Nov 29;8(4):279-88. Epub 2007 Sep 29.

Center for Human Genetics and Department of Human Genetics, University of Regensburg, Universitätklinikum D3, Franz-Josef-Strauss-Allee 11, Regensburg 93053, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-007-0096-yDOI Listing
November 2007

A new syndrome of tufting enteropathy and choanal atresia, with ophthalmologic, hematologic and hair abnormalities.

Clin Dysmorphol 2007 Oct;16(4):211-21

Rady Children's Hospital San Diego, California 92123, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0b013e328274264bDOI Listing
October 2007

Digitocutaneous dysplasia.

J Am Acad Dermatol 2007 Feb 14;56(2 Suppl):S6-9. Epub 2006 Sep 14.

Division of Dermatology, University of California, San Diego, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaad.2006.04.013DOI Listing
February 2007

Sjögren-Larsson syndrome: a case report and literature review.

Cutis 2006 Jul;78(1):61-5

Division of Pediatric and Adolescent Dermatology, Department of Pediatrics, University of California, San Diego, USA.

View Article

Download full-text PDF

Source
July 2006

Megalourethra: A report of three cases associated with maternal diabetes and a review of the literature--is sonic hedgehog the common pathway?

Am J Med Genet A 2005 Jan;132A(3):314-7

Department of Pediatrics, University of California, San Diego, La Jolla, California, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30286DOI Listing
January 2005

Neonatal phenotype in Kabuki syndrome.

Am J Med Genet A 2005 Jan;132A(3):244-7

Department of Pediatrics, University of California, San Diego, La Jolla, California, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30336DOI Listing
January 2005

Marfanoid habitus with abnormal situs.

Am J Med Genet A 2004 Jun;127A(3):310-2

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.30022
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.30022DOI Listing
June 2004

Vertically transmitted hypoplasia of the abdominal wall musculature.

Clin Dysmorphol 2004 Jan;13(1):7-10

Division of Pediatric Dermatology, Children's Hospital and Health Center, 3020 Children's Way #5031, San Diego, CA 92123, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/00019605-200401000-00002DOI Listing
January 2004